{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:42:49Z","timestamp":1789764169792,"version":"4.0.1"},"reference-count":231,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:00:00Z","timestamp":1708473600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Muscular Dystrophy Canada, the Friends of Garrett Cumming Research Fund"},{"name":"HM Toupin Neurological Science Research Fund"},{"name":"Canadian Institutes of Health Research (CIHR)"},{"name":"Canada Foundation for Innovation"},{"name":"Alberta Advanced Education and Technology"},{"name":"Alberta Innovates: Health Solutions (AIHS)"},{"name":"Women and Children\u2019s Health Research Institute (WCHRI)"},{"name":"The Rare Disease Foundation"},{"name":"BC Children\u2019s Hospital Foundation"},{"name":"Maternal and Child Health (MatCH) Program"},{"name":"Alberta Innovates"},{"name":"Women and Children\u2019s Health Research Institute (WCHRI)"},{"name":"Andrew Stewart Memorial Graduate Prizes"},{"name":"Alberta Graduate Excellence Scholarships (AGES)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This review delves into the clinical spectra of dysferlinopathies, their molecular mechanisms, and the spectrum of emerging therapeutic strategies. We examine the phenotypic heterogeneity of dysferlinopathies, highlighting the incomplete understanding of genotype-phenotype correlations and discussing the implications of various DYSF mutations. In addition, we explore the potential of symptomatic, pharmacological, molecular, and genetic therapies in mitigating the disease\u2019s progression. We also consider the roles of diet and metabolism in managing dysferlinopathies, as well as the impact of clinical trials on treatment paradigms. Furthermore, we examine the utility of animal models in elucidating disease mechanisms. By culminating the complexities inherent in dysferlinopathies, this write up emphasizes the need for multidisciplinary approaches, precision medicine, and extensive collaboration in research and clinical trial design to advance our understanding and treatment of these challenging disorders.<\/jats:p>","DOI":"10.3390\/biom14030256","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T06:50:22Z","timestamp":1708498222000},"page":"256","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3688-5923","authenticated-orcid":false,"given":"Saeed","family":"Anwar","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6672-6742","authenticated-orcid":false,"given":"Toshifumi","family":"Yokota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/1689","article-title":"A Gene Related to Caenorhabditis Elegans Spermatogenesis Factor Fer-1 Is Mutated in Limb-Girdle Muscular Dystrophy Type 2B","volume":"20","author":"Bashir","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/1682","article-title":"Dysferlin, a Novel Skeletal Muscle Gene, Is Mutated in Miyoshi Myopathy and Limb Girdle Muscular Dystrophy","volume":"20","author":"Liu","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1038\/s41436-019-0544-8","article-title":"Estimating Prevalence for Limb-Girdle Muscular Dystrophy Based on Public Sequencing Databases","volume":"21","author":"Liu","year":"2019","journal-title":"Genet. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/humu.20642","article-title":"Clinical, Molecular, and Protein Correlations in a Large Sample of Genetically Diagnosed Italian Limb Girdle Muscular Dystrophy Patients","volume":"29","author":"Guglieri","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1097\/01.jnen.0000235854.77716.6c","article-title":"Limb-Girdle Muscular Dystrophy in the United States","volume":"65","author":"Moore","year":"2006","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1212\/WNL.57.2.271","article-title":"Genomic Organization of the Dysferlin Gene and Novel Mutations in Miyoshi Myopathy","volume":"57","author":"Aoki","year":"2001","journal-title":"Neurology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/humu.9355","article-title":"Dysferlin Mutations in LGMD2B, Miyoshi Myopathy, and Atypical Dysferlinopathies","volume":"26","author":"Nguyen","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nature01573","article-title":"Defective Membrane Repair in Dysferlin-Deficient Muscular Dystrophy","volume":"423","author":"Bansal","year":"2003","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.tcb.2004.03.001","article-title":"Dysferlin and the Plasma Membrane Repair in Muscular Dystrophy","volume":"14","author":"Bansal","year":"2004","journal-title":"Trends Cell Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"20831","DOI":"10.1073\/pnas.1307960110","article-title":"Dysferlin Stabilizes Stress-Induced Ca2+ Signaling in the Transverse Tubule Membrane","volume":"110","author":"Kerr","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1096\/fj.06-7659com","article-title":"From T-tubule to Sarcolemma: Damage-induced Dysferlin Translocation in Early Myogenesis","volume":"21","author":"Klinge","year":"2007","journal-title":"FASEB J."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1242\/jcs.198861","article-title":"Dysferlin Mediates Membrane Tubulation and Links T-Tubule Biogenesis to Muscular Dystrophy","volume":"130","author":"Hofhuis","year":"2017","journal-title":"J. Cell Sci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1021\/bi802242r","article-title":"Characterization of Lipid Binding Specificities of Dysferlin C2 Domains Reveals Novel Interactions with Phosphoinositides","volume":"48","author":"Therrien","year":"2009","journal-title":"Biochemistry"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"22883","DOI":"10.1074\/jbc.M201858200","article-title":"Calcium-Sensitive Phospholipid Binding Properties of Normal and Mutant Ferlin C2 Domains","volume":"277","author":"Davis","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"50466","DOI":"10.1074\/jbc.M307247200","article-title":"Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-Healing","volume":"278","author":"Lennon","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Azakir, B.A., Di Fulvio, S., Therrien, C., and Sinnreich, M. (2010). Dysferlin Interacts with Tubulin and Microtubules in Mouse Skeletal Muscle. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0010122"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"15894","DOI":"10.1074\/jbc.M109.009589","article-title":"Membrane Repair Defects in Muscular Dystrophy Are Linked to Altered Interaction between MG53, Caveolin-3, and Dysferlin","volume":"284","author":"Cai","year":"2009","journal-title":"J. Biol. Chem."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1093\/hmg\/10.17.1761","article-title":"The Sarcolemmal Proteins Dysferlin and Caveolin-3 Interact in Skeletal Muscle","volume":"10","author":"Matsuda","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1096\/fj.06-6628com","article-title":"AHNAK a Novel Component of the Dysferlin Protein Complex, Redistributes to the Cytoplasm with Dysferlin during Skeletal Muscle Regeneration","volume":"21","author":"Huang","year":"2007","journal-title":"FASEB J."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.jns.2006.07.004","article-title":"Mutation Impact on Dysferlin Inferred from Database Analysis and Computer-Based Structural Predictions","volume":"250","author":"Therrien","year":"2006","journal-title":"J. Neurol. Sci."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/2044-5040-3-3","article-title":"A Human Skeletal Muscle Interactome Centered on Proteins Involved in Muscular Dystrophies: LGMD Interactome","volume":"3","author":"Blandin","year":"2013","journal-title":"Skelet. Muscle"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/cge.14216","article-title":"Dysferlinopathies: Clinical and Genetic Variability","volume":"102","author":"Ivanova","year":"2022","journal-title":"Clin. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Bouchard, C., and Tremblay, J.P. (2023). Portrait of Dysferlinopathy: Diagnosis and Development of Therapy. J. Clin. Med., 12.","DOI":"10.3390\/jcm12186011"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1093\/hmg\/8.5.855","article-title":"Dysferlin Is a Plasma Membrane Protein and Is Expressed Early in Human Development","volume":"8","author":"Anderson","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"14147","DOI":"10.1074\/jbc.M112.448589","article-title":"Dysferlin Regulates Cell Adhesion in Human Monocytes","volume":"288","author":"Flix","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"540098","DOI":"10.3389\/fneur.2020.540098","article-title":"Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses","volume":"11","author":"Zhang","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_27","unstructured":"(2023, September 21). BioGPS GeneAtlas U133A, Gcrma. Available online: http:\/\/biogps.org\/#goto=genereport&id=8291."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.1016\/0960-8966(96)88958-9","article-title":"The Phenotype of Chromosome 2P-Linked Limb-Girdle Muscular Dystrophy","volume":"6","author":"Mahjneh","year":"1996","journal-title":"Neuromuscul. Disord."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0","article-title":"Distal Anterior Compartment Myopathy: A Dysferlin Mutation Causing a New Muscular Dystrophy Phenotype","volume":"49","author":"Illa","year":"2001","journal-title":"Ann. Neurol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1002\/mus.880100411","article-title":"High Serum Levels of Creatine Kinase: Asymptomatic Prelude to Distal Myopathy","volume":"10","author":"Galassi","year":"1987","journal-title":"Muscle Nerve"},{"key":"ref_31","unstructured":"Adam, M.P., Mirzaa, G.M., and Pagon, R.A. (1993). GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"E345","DOI":"10.1002\/humu.20910","article-title":"Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients","volume":"30","author":"Krahn","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"635","DOI":"10.4103\/0028-3886.149386","article-title":"Clinical Heterogeneity and a High Proportion of Novel Mutations in a Chinese Cohort of Patients with Dysferlinopathy","volume":"62","author":"Xi","year":"2014","journal-title":"Neurol. India"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1001\/archneur.64.8.1176","article-title":"Phenotypic Study in 40 Patients with Dysferlin Gene Mutations: High Frequency of Atypical Phenotypes","volume":"64","author":"Nguyen","year":"2007","journal-title":"Arch. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"875","DOI":"10.2119\/molmed.2011.00084","article-title":"Translational Research and Therapeutic Perspectives in Dysferlinopathies","volume":"17","author":"Wein","year":"2011","journal-title":"Mol. Med."},{"key":"ref_36","first-page":"113","article-title":"Four Cases of Distal Myopathy in Two Families","volume":"12","author":"Miyoshi","year":"1967","journal-title":"Jpn. J. Hum. Genet."},{"key":"ref_37","first-page":"627","article-title":"Distal Myopathy--Report of Four Cases","volume":"9","author":"Sasaki","year":"1969","journal-title":"Clin. Neurol."},{"key":"ref_38","first-page":"579","article-title":"Distal Myopathy-Report of 4 Cases in Two Families","volume":"13","author":"Ideta","year":"1973","journal-title":"Rinsho Shinkeigaku"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.nmd.2008.01.004","article-title":"Late Onset in Dysferlinopathy Widens the Clinical Spectrum","volume":"18","author":"Klinge","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/brain\/119.6.1895","article-title":"Clinical and Molecular Analysis of a Large Family with Three Distinct Phenotypes of Progressive Muscular Dystrophy","volume":"119","author":"Illarioshkin","year":"1996","journal-title":"Brain"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0022-510X(00)00484-6","article-title":"Phenotypic Variation in a Large Japanese Family with Miyoshi Myopathy with Nonsense Mutation in Exon 19 of Dysferlin Gene","volume":"184","author":"Nakagawa","year":"2001","journal-title":"J. Neurol. Sci."},{"key":"ref_42","first-page":"77","article-title":"Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan","volume":"8","author":"Umakhanova","year":"2017","journal-title":"Front. Neurol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"289","DOI":"10.4103\/0028-3886.43447","article-title":"Dysferlinopathies","volume":"56","author":"Urtizberea","year":"2008","journal-title":"Neurol. India"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/brain\/109.1.31","article-title":"Autosomal Recessive Distal Muscular Dystrophy as a New Type of Progressive Muscular Dystrophy: Seventeen Cases in Eight Families Including an Autopsied Case","volume":"109","author":"Miyoshi","year":"1986","journal-title":"Brain"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0960-8966(99)00041-3","article-title":"Prominent Inflammatory Changes on Muscle Biopsy in Patients with Miyoshi Myopathy","volume":"9","author":"Rowin","year":"1999","journal-title":"Neuromuscul. Disord."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e89","DOI":"10.1212\/NXG.0000000000000089","article-title":"The Clinical Outcome Study for Dysferlinopathy","volume":"2","author":"Harris","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jnnp-2011-301339","article-title":"Clinical Features and a Mutation with Late Onset of Limb Girdle Muscular Dystrophy 2B","volume":"84","author":"Takahashi","year":"2013","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1002\/humu.24036","article-title":"The Genetic Profile of Dysferlinopathy in a Cohort of 209 Cases: Genotype\u2013Phenotype Relationship and a Hotspot on the Inner DysF Domain","volume":"41","author":"Izumi","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Wang, N., Han, X., Hao, S., Han, J., Zhou, X., Sun, S., Tang, J., Lu, Y., Wu, H., and Ma, S. (2022). The Clinical, Myopathological, and Molecular Characteristics of 26 Chinese Patients with Dysferlinopathy: A High Proportion of Misdiagnosis and Novel Variants. BMC Neurol., 22.","DOI":"10.1186\/s12883-022-02905-w"},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Contreras-Cubas, C., Barajas-Olmos, F., Frayre-Mart\u00ednez, M.I., Siordia-Reyes, G., Gu\u00edzar-S\u00e1nchez, C.C., Garc\u00eda-Ortiz, H., Orozco, L., and Baca, V. (2022). Dysferlinopathy Misdiagnosed with Juvenile Polymyositis in the Pre-Symptomatic Stage of HyperCKemia: A Case Report and Literature Review. BMC Med. Genom., 15.","DOI":"10.1186\/s12920-022-01284-y"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"E2317","DOI":"10.1002\/humu.22015","article-title":"UMD-DYSF, a Novel Locus Specific Database for the Compilation and Interactive Analysis of Mutations in the Dysferlin Gene","volume":"33","author":"Blandin","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/qjmed\/hcad003","article-title":"Dysferlinopathy, with Mild Cardiac Involvement, from a Novel Mutation of DYSF Gene","volume":"116","author":"Shen","year":"2023","journal-title":"QJM Int. J. Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1136\/jnnp-2017-317488","article-title":"Muscle MRI in Patients with Dysferlinopathy: Pattern Recognition and Implications for Clinical Trials","volume":"89","author":"LLauger","year":"2018","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"815556","DOI":"10.3389\/fnins.2022.815556","article-title":"Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia","volume":"16","author":"Alharbi","year":"2022","journal-title":"Front. Neurosci."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/mus.27524","article-title":"Cardiac and Pulmonary Findings in Dysferlinopathy: A 3-year, Longitudinal Study","volume":"65","author":"Moore","year":"2022","journal-title":"Muscle Nerve"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"532","DOI":"10.2169\/internalmedicine.41.532","article-title":"Clinical Heterogeneity in Dysferlinopathy","volume":"41","author":"Ueyama","year":"2002","journal-title":"Intern. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1136\/jnnp.2009.178038","article-title":"New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy","volume":"81","author":"Klinge","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1002\/jcsm.12987","article-title":"Three-Year Quantitative Magnetic Resonance Imaging and Phosphorus Magnetic Resonance Spectroscopy Study in Lower Limb Muscle in Dysferlinopathy","volume":"13","author":"Reyngoudt","year":"2022","journal-title":"J. Cachexia. Sarcopenia Muscle"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"264","DOI":"10.37897\/RJN.2021.2.23","article-title":"The challenging diagnosis of dysferlinopathy\u2014A case report","volume":"20","author":"Socoliuc","year":"2021","journal-title":"Rom. J. Neurol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/mus.25367","article-title":"Progress and Challenges in Diagnosis of Dysferlinopathy","volume":"54","author":"Fanin","year":"2016","journal-title":"Muscle Nerve"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ana.10080","article-title":"A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy","volume":"51","author":"Ho","year":"2002","journal-title":"Ann. Neurol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/mus.24195","article-title":"Diagnostic Overview of Blood-Based Dysferlin Protein Assay for Dysferlinopathies","volume":"50","author":"Ankala","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_63","first-page":"275","article-title":"Genetics 101: Detecting Mutations in Human Genes","volume":"167","author":"Sinclair","year":"2002","journal-title":"Can. Med. Assoc. J."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/hmg\/3.3.455","article-title":"A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy Maps to Chromosome 2p","volume":"3","author":"Bashlr","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_65","first-page":"872","article-title":"Limb-Girdle Muscular Dystrophy and Miyoshi Myopathy in an Aboriginal Canadian Kindred Map to LGMD2B and Segregate with the Same Haplotype","volume":"59","author":"Weiler","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0","article-title":"Seven Autosomal Recessive Limb-Girdle Muscular Dystrophies in the Brazilian Population: From LGMD2A to LGMD2G","volume":"82","author":"Vainzof","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<305::AID-AJMG12>3.0.CO;2-S","article-title":"Splicing Mutation in Dysferlin Produces Limb-Girdle Muscular Dystrophy with Inflammation","volume":"91","author":"McNally","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1212\/01.wnl.0000256768.79353.60","article-title":"Symptomatic Dysferlin Gene Mutation Carriers: Characterization of Two Cases","volume":"68","author":"Illa","year":"2007","journal-title":"Neurology"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/ana.21309","article-title":"Dysferlin-Deficient Muscular Dystrophy Features Amyloidosis","volume":"63","author":"Spuler","year":"2008","journal-title":"Ann. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1038\/ejhg.2011.70","article-title":"Muscular Dystrophy with Marked Dysferlin Deficiency Is Consistently Caused by Primary Dysferlin Gene Mutations","volume":"19","author":"Cacciottolo","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1001\/archneur.61.10.1594","article-title":"Phenotypic Features and Genetic Findings in 2 Chinese Families with Miyoshi Distal Myopathy","volume":"61","author":"Ro","year":"2004","journal-title":"Arch. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/0022-510X(94)90096-5","article-title":"Autosomal Recessive Distal Muscular Dystrophy: Normal Expression of Dystrophin, Utrophin and Dystrophin-Associated Proteins in Muscle Fibers","volume":"126","author":"Yamanouchi","year":"1994","journal-title":"J. Neurol. Sci."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0960-8966(98)00030-3","article-title":"Overview of Distal Myopathies: From the Clinical to the Molecular","volume":"8","author":"Barohn","year":"1998","journal-title":"Neuromuscul. Disord."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1212\/WNL.41.9.1365","article-title":"Autosomal Recessive Distal Dystrophy","volume":"41","author":"Barohn","year":"1991","journal-title":"Neurology"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1093\/brain\/120.11.1989","article-title":"Miyoshi-Type Distal Muscular Dystrophy. Clinical Spectrum in 24 Dutch Patients","volume":"120","author":"Linssen","year":"1997","journal-title":"Brain"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1001\/archneur.62.8.1256","article-title":"Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population","volume":"62","author":"Vilchez","year":"2005","journal-title":"Arch. Neurol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1212\/WNL.0b013e3181ea1564","article-title":"Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies","volume":"75","author":"Paradas","year":"2010","journal-title":"Neurology"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s00415-005-0684-4","article-title":"Diagnostic Value of Muscle MRI in Differentiating LGMD2I from Other LGMDs","volume":"252","author":"Fischer","year":"2005","journal-title":"J. Neurol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.nmd.2008.09.015","article-title":"A New Phenotype of Dysferlinopathy with Congenital Onset","volume":"19","author":"Paradas","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"D988","DOI":"10.1093\/nar\/gkab1049","article-title":"Ensembl 2022","volume":"50","author":"Cunningham","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1095\/biolreprod.107.062190","article-title":"Dysferlin Is Expressed in Human Placenta but Does Not Associate with Caveolin","volume":"77","author":"Kniss","year":"2007","journal-title":"Biol. Reprod."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1111\/j.1600-0854.2007.00573.x","article-title":"Dysferlin in Membrane Trafficking and Patch Repair","volume":"8","author":"Glover","year":"2007","journal-title":"Traffic"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.bbrc.2011.08.105","article-title":"Characterization of Zebrafish Dysferlin by Morpholino Knockdown","volume":"413","author":"Kawahara","year":"2011","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1093\/hmg\/9.2.217","article-title":"Myoferlin, a Candidate Gene and Potential Modifier of Muscular Dystrophy","volume":"9","author":"Davis","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"5565","DOI":"10.1242\/dev.02155","article-title":"Normal Myoblast Fusion Requires Myoferlin","volume":"132","author":"Doherty","year":"2005","journal-title":"Development"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/j.1600-0854.2011.01267.x","article-title":"Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair","volume":"13","author":"Lek","year":"2012","journal-title":"Traffic"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1016\/j.ajpath.2013.01.041","article-title":"Expression of Myoferlin in Human and Murine Carcinoma Tumors: Role in Membrane Repair, Cell Proliferation, and Tumorigenesis","volume":"182","author":"Leung","year":"2013","journal-title":"Am. J. Pathol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.expneurol.2016.06.026","article-title":"Dysferlin Function in Skeletal Muscle: Possible Pathological Mechanisms and Therapeutical Targets in Dysferlinopathies","volume":"283","author":"Cea","year":"2016","journal-title":"Exp. Neurol."},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Sula, A., Cole, A.R., Yeats, C., Orengo, C., and Keep, N.H. (2014). Crystal Structures of the Human Dysferlin Inner DysF Domain. BMC Struct. Biol., 14.","DOI":"10.1186\/1472-6807-14-3"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"10949","DOI":"10.1038\/s41598-018-29184-1","article-title":"FerA Is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins","volume":"8","author":"Harsini","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1016\/j.jmb.2019.04.006","article-title":"Structural Basis for the Distinct Membrane Binding Activity of the Homologous C2A Domains of Myoferlin and Dysferlin","volume":"431","author":"Harsini","year":"2019","journal-title":"J. Mol. Biol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0896-6273(01)80052-0","article-title":"Synaptotagmin-Syntaxin Interaction: The C2 Domain as a Ca2+-Dependent Electrostatic Switch","volume":"18","author":"Shao","year":"1997","journal-title":"Neuron"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.bpj.2013.11.4492","article-title":"Quantitation of the Calcium and Membrane Binding Properties of the C2 Domains of Dysferlin","volume":"106","author":"Abdullah","year":"2014","journal-title":"Biophys. J."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"5085","DOI":"10.1523\/JNEUROSCI.3560-12.2013","article-title":"Calpains, Cleaved Mini-Dysferlinc72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair","volume":"33","author":"Lek","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"3037","DOI":"10.1091\/mbc.e14-04-0947","article-title":"Calpain Cleavage within Dysferlin Exon 40a Releases a Synaptotagmin-like Module for Membrane Repair","volume":"25","author":"Redpath","year":"2014","journal-title":"Mol. Biol. Cell"},{"key":"ref_96","doi-asserted-by":"crossref","unstructured":"Fuson, K. (2014). Alternate Splicing of Dysferlin C2A Confers Ca2+-Dependent and Ca2+-Independent Binding for Membrane Repair. Biophys. J., 106.","DOI":"10.1016\/j.bpj.2013.11.2817"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.jmb.2008.04.046","article-title":"Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B","volume":"379","author":"Patel","year":"2008","journal-title":"J. Mol. Biol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1101\/gr.198701","article-title":"Novel Protein Domains and Repeats in Drosophila Melanogaster: Insights into Structure, Function, and Evolution","volume":"11","author":"Ponting","year":"2001","journal-title":"Genome Res."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1042\/BCJ20200773","article-title":"Calcium Binds and Rigidifies the Dysferlin C2A Domain in a Tightly Coupled Manner","volume":"478","author":"Wang","year":"2021","journal-title":"Biochem. J."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1293\/tox.25.135","article-title":"Dysferlin and Animal Models for Dysferlinopathy","volume":"25","author":"Kobayashi","year":"2012","journal-title":"J. Toxicol. Pathol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1113\/JP282648","article-title":"The C2 Domains of Dysferlin: Roles in Membrane Localization, Ca2+ Signalling and Sarcolemmal Repair","volume":"600","author":"Muriel","year":"2022","journal-title":"J. Physiol."},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Kwok, E., Otto, S.C., Khuu, P., Carpenter, A.P., Codding, S.J., Reardon, P.N., Vanegas, J., Kumar, T.M., Kuykendall, C.J., and Mehl, R.A. (2023). The Dysferlin C2A Domain Binds PI(4,5)P2 and Penetrates Membranes. J. Mol. Biol., 435.","DOI":"10.1016\/j.jmb.2023.168193"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1242\/jcs.02980","article-title":"FER-1 Regulates Ca2+-Mediated Membrane Fusion during C. Elegans Spermatogenesis","volume":"119","author":"Washington","year":"2006","journal-title":"J. Cell Sci."},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Dominguez, M.J., McCord, J.J., and Sutton, R.B. (2022). Redefining the Architecture of Ferlin Proteins: Insights into Multi-Domain Protein Structure and Function. PLoS ONE, 17.","DOI":"10.1101\/2022.01.18.476802"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"2150","DOI":"10.1016\/j.ymthe.2017.05.013","article-title":"Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA\/J Mice","volume":"25","author":"Llanga","year":"2017","journal-title":"Mol. Ther."},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"Duan, D., and Mendell, J.R. (2019). Muscle Gene Therapy, Springer.","DOI":"10.1007\/978-3-030-03095-7"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1002\/cphy.c170052","article-title":"Immunobiology of Inherited Muscular Dystrophies","volume":"8","author":"Tidball","year":"2018","journal-title":"Compr. Physiol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"2891","DOI":"10.2353\/ajpath.2010.090058","article-title":"Inflammasome Up-Regulation and Activation in Dysferlin-Deficient Skeletal Muscle","volume":"176","author":"Rawat","year":"2010","journal-title":"Am. J. Pathol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.ceb.2007.07.001","article-title":"Dysferlin and Muscle Membrane Repair","volume":"19","author":"Han","year":"2007","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"17092","DOI":"10.1074\/jbc.M601885200","article-title":"Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation \u201cin Vitro\u201d","volume":"281","author":"Gallardo","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1016\/j.biocel.2013.06.007","article-title":"Dysferlin Interacts with Calsequestrin-1, Myomesin-2 and Dynein in Human Skeletal Muscle","volume":"45","author":"Flix","year":"2013","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_112","first-page":"134","article-title":"Intracellular Localization of Dysferlin and Its Association with the Dihydropyridine Receptor","volume":"24","author":"Ampong","year":"2005","journal-title":"Acta Myol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1369\/0022155411423274","article-title":"Unmasking Potential Intracellular Roles For Dysferlin through Improved Immunolabeling Methods","volume":"59","author":"Roche","year":"2011","journal-title":"J. Histochem. Cytochem."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"89","DOI":"10.3389\/fphys.2014.00089","article-title":"Dysferlin at Transverse Tubules Regulates Ca2+ Homeostasis in Skeletal Muscle","volume":"5","author":"Kerr","year":"2014","journal-title":"Front. Physiol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1002\/mus.21166","article-title":"Dysferlin Associates with the Developing T-Tubule System in Rodent and Human Skeletal Muscle","volume":"41","author":"Klinge","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/NEN.0b013e31821350b0","article-title":"Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System with Stretch","volume":"70","author":"Waddell","year":"2011","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ajpath.2013.09.009","article-title":"Dysferlin and Myoferlin Regulate Transverse Tubule Formation and Glycerol Sensitivity","volume":"184","author":"Demonbreun","year":"2014","journal-title":"Am. J. Pathol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s10974-007-9121-x","article-title":"T-Tubule Formation in Cardiacmyocytes: Two Possible Mechanisms?","volume":"28","author":"Karko","year":"2007","journal-title":"J. Muscle Res. Cell Motil."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"774","DOI":"10.2353\/ajpath.2008.070327","article-title":"Dysferlin Deficiency Enhances Monocyte Phagocytosis: A Model for the Inflammatory Onset of Limb-Girdle Muscular Dystrophy 2B","volume":"172","author":"Nagaraju","year":"2008","journal-title":"Am. J. Pathol."},{"key":"ref_120","doi-asserted-by":"crossref","unstructured":"Rayavarapu, S., Van der Meulen, J.H., Gordish-Dressman, H., Hoffman, E.P., Nagaraju, K., and Knoblach, S.M. (2010). Characterization of Dysferlin Deficient SJL\/J Mice to Assess Preclinical Drug Efficacy: Fasudil Exacerbates Muscle Disease Phenotype. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0012981"},{"key":"ref_121","first-page":"3069","article-title":"CD4+ Cells, Macrophages, MHC-I and C5b-9 Involve the Pathogenesis of Dysferlinopathy","volume":"8","author":"Yin","year":"2015","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"6219","DOI":"10.4049\/jimmunol.175.9.6219","article-title":"Increased Susceptibility to Complement Attack Due to Down-Regulation of Decay-Accelerating Factor\/CD55 in Dysferlin-Deficient Muscular Dystrophy","volume":"175","author":"Wenzel","year":"2005","journal-title":"J. Immunol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"4366","DOI":"10.1172\/JCI42390","article-title":"Genetic Ablation of Complement C3 Attenuates Muscle Pathology in Dysferlin-Deficient Mice","volume":"120","author":"Han","year":"2010","journal-title":"J. Clin. Investig."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"4165","DOI":"10.1111\/febs.12261","article-title":"Dysferlin-Deficient Muscular Dystrophy and Innate Immune Activation","volume":"280","author":"Mariano","year":"2013","journal-title":"FEBS J."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"4149","DOI":"10.1111\/febs.12142","article-title":"Oxidative Stress and Pathology in Muscular Dystrophies: Focus on Protein Thiol Oxidation and Dysferlinopathies","volume":"280","author":"Terrill","year":"2013","journal-title":"FEBS J."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.lfs.2014.05.005","article-title":"Involvement of Oxidative Stress, Nuclear Factor Kappa B and the Ubiquitin Proteasomal Pathway in Dysferlinopathy","volume":"108","author":"Rajakumar","year":"2014","journal-title":"Life Sci."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1093\/jnen\/63.10.1104","article-title":"In Vivo and in Vitro Dysferlin Expression in Human Muscle Satellite Cells","volume":"63","author":"Gallardo","year":"2004","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_128","first-page":"61","article-title":"Modeling and Gene Therapy of Dysferlinopathy","volume":"8","author":"Starostina","year":"2013","journal-title":"Cell. Transplant. Tissue Eng."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.1093\/hmg\/ddp121","article-title":"Attenuated Muscle Regeneration Is a Key Factor in Dysferlin-Deficient Muscular Dystrophy","volume":"18","author":"Chiu","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1242\/bio.20135637","article-title":"FER-1\/Dysferlin Promotes Cholinergic Signaling at the Neuromuscular Junction in C. Elegans and Mice","volume":"2","author":"Krajacic","year":"2013","journal-title":"Biol. Open"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/tra.12370","article-title":"Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane\/Late Endosomal or Trans-Golgi\/Recycling Ferlins","volume":"17","author":"Redpath","year":"2016","journal-title":"Traffic"},{"key":"ref_132","doi-asserted-by":"crossref","unstructured":"Gallardo, E., de Luna, N., Diaz-Manera, J., Rojas-Garc\u00eda, R., Gonzalez-Quereda, L., Flix, B., de Morr\u00e9e, A., van der Maarel, S., and Illa, I. (2011). Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0029061"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.placenta.2004.11.007","article-title":"Excess Syncytiotrophoblast Microparticle Shedding Is a Feature of Early-Onset Pre-Eclampsia, but Not Normotensive Intrauterine Growth Restriction","volume":"27","author":"Goswamia","year":"2006","journal-title":"Placenta"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1016\/j.placenta.2006.10.007","article-title":"Formation of Syncytial Knots Is Increased by Hyperoxia, Hypoxia and Reactive Oxygen Species","volume":"28","author":"Heazell","year":"2007","journal-title":"Placenta"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.placenta.2009.05.008","article-title":"Placental Dysferlin Expression Is Reduced in Severe Preeclampsia","volume":"30","author":"Lang","year":"2009","journal-title":"Placenta"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.placenta.2008.10.017","article-title":"Placental Proteomics: A Shortcut to Biological Insight","volume":"30","author":"Robinson","year":"2009","journal-title":"Placenta"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1212\/WNL.53.5.1119","article-title":"Dysferlin Is a Surface Membrane-Associated Protein That Is Absent in Miyoshi Myopathy","volume":"53","author":"Matsuda","year":"1999","journal-title":"Neurology"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"5404","DOI":"10.1074\/jbc.M110.173559","article-title":"Reverse Engineering Gene Network Identifies New Dysferlin-Interacting Proteins","volume":"286","author":"Cacciottolo","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1093\/hmg\/ddi434","article-title":"Aberrant Dysferlin Trafficking in Cells Lacking Caveolin or Expressing Dystrophy Mutants of Caveolin-3","volume":"15","author":"Martin","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/humu.9364","article-title":"Mutation Finding in Patients with Dysferlin Deficiency and Role of the Dysferlin Interacting Proteins Annexin A1 and A2 in Muscular Dystrophies","volume":"26","author":"Cagliani","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1093\/jnen\/64.4.334","article-title":"Dysferlin Interacts with Affixin (\u03b2-Parvin) at the Sarcolemma","volume":"64","author":"Matsuda","year":"2005","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0960-8966(00)00143-7","article-title":"Secondary Reduction in Calpain 3 Expression in Patients with Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy (Primary Dysferlinopathies)","volume":"10","author":"Anderson","year":"2000","journal-title":"Neuromuscul. Disord."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1093\/hmg\/ddn081","article-title":"Calpain 3 Is a Modulator of the Dysferlin Protein Complex in Skeletal Muscle","volume":"17","author":"Huang","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1038\/emm.2003.70","article-title":"Dysferlin in a HyperCKaemic Patient with Caveolin 3 Mutation and in C2C12 Cells after P38 MAP Kinase Inhibition","volume":"35","author":"Capanni","year":"2003","journal-title":"Exp. Mol. Med."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1007\/s00415-003-0234-x","article-title":"Variable Reduction of Caveolin-3 in Patients with LGMD2B\/MM","volume":"250","author":"Walter","year":"2003","journal-title":"J. Neurol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"8297","DOI":"10.1073\/pnas.88.19.8297","article-title":"Moesin: A Member of the Protein 4.1-Talin-Ezrin Family of Proteins","volume":"88","author":"Lankes","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1083\/jcb.145.7.1497","article-title":"Direct Involvement of Ezrin\/Radixin\/Moesin (ERM)-Binding Membrane Proteins in the Organization of Microvilli in Collaboration with Activated ERM Proteins","volume":"145","author":"Yonemura","year":"1999","journal-title":"J. Cell Biol."},{"key":"ref_148","first-page":"134","article-title":"Dysferlinopathies","volume":"4","author":"Vernengo","year":"2013","journal-title":"J. Genet. Syndr. Gene Ther."},{"key":"ref_149","doi-asserted-by":"crossref","unstructured":"Philippi, S., Bigot, A., Marg, A., Mouly, V., Spuler, S., and Zacharias, U. (2012). Dysferlin-Deficient Immortalized Human Myoblasts and Myotubes as a Useful Tool to Study Dysferlinopathy. PLoS Curr., 4.","DOI":"10.1371\/currents.RRN1298"},{"key":"ref_150","doi-asserted-by":"crossref","unstructured":"Matsuda, C., Kiyosue, K., Nishino, I., Goto, Y., and Hayashi, Y.K. (2015). Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. PLoS Curr., 7.","DOI":"10.1371\/currents.md.5865add2d766f39a0e0411d38a7ba09c"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/humu.21160","article-title":"Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping","volume":"31","author":"Wein","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_152","doi-asserted-by":"crossref","unstructured":"Lostal, W., Bartoli, M., Roudaut, C., Bourg, N., Krahn, M., Pryadkina, M., Borel, P., Suel, L., Roche, J.A., and Stockholm, D. (2012). Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0038036"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1111\/j.1600-0854.2003.00164.x","article-title":"Membrane Traffic in Skeletal Muscle","volume":"5","author":"Towler","year":"2004","journal-title":"Traffic"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"17","DOI":"10.2174\/1874085500801010017","article-title":"Identification of Proteins Interacting with Dysferlin Using the Tandem Affinity Purification Method","volume":"1","author":"Assadi","year":"2008","journal-title":"Open Cell Dev. Biol. J."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/2044-5040-1-10","article-title":"Muscle Membrane Repair and Inflammatory Attack in Dysferlinopathy","volume":"1","author":"Han","year":"2011","journal-title":"Skelet. Muscle"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/mus.20836","article-title":"Distal Anterior Compartment Myopathy with Early Ankle Contractures","volume":"36","author":"Saito","year":"2007","journal-title":"Muscle Nerve"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1093\/brain\/123.6.1229","article-title":"Muscular Dystrophy Due to Dysferlin Deficiency in Libyan Jews. Clinical and Genetic Features","volume":"123","author":"Argov","year":"2000","journal-title":"Brain"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1212\/01.WNL.0000068333.43005.12","article-title":"Dysferlin Mutations in Japanese Miyoshi Myopathy: Relationship to Phenotype","volume":"60","author":"Takahashi","year":"2003","journal-title":"Neurology"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1093\/hmg\/8.5.871","article-title":"Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B or Miyoshi Myopathy Suggests a Role for Modifier Gene(S)","volume":"8","author":"Weiler","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/j.nmd.2007.07.010","article-title":"Dysferlinopathy in the Jews of the Caucasus: A Frequent Mutation in the Dysferlin Gene","volume":"17","author":"Argov","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/S0960-8966(03)00133-0","article-title":"Molecular Analysis of LGMD-2B and MM Patients: Identification of Novel DYSF Mutations and Possible Founder Effect in the Italian Population","volume":"13","author":"Cagliani","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1038\/s41436-021-01164-3","article-title":"Retrospective Analysis and Reclassification of DYSF Variants in a Large French Series of Dysferlinopathy Patients","volume":"23","author":"Charnay","year":"2021","journal-title":"Genet. Med."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/cge.13887","article-title":"Null Variants in DYSF Result in Earlier Symptom Onset","volume":"99","author":"Park","year":"2021","journal-title":"Clin. Genet."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1212\/01.wnl.0000204358.89303.81","article-title":"Lariat Branch Point Mutation in the Dysferlin Gene with Mild Limb-Girdle Muscular Dystrophy","volume":"66","author":"Sinnreich","year":"2006","journal-title":"Neurology"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/mus.21650","article-title":"Novel Diagnostic Features of Dysferlinopathies","volume":"42","author":"Rosales","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2183\/pjab.75.207","article-title":"Molecular Genetic Analysis of Dysferlin in Japanese Patients with Miyoshi Myopathy","volume":"75","author":"Matsumura","year":"1999","journal-title":"Proc. Jpn. Acad. Ser. B Phys. Biol. Sci."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"E20810","DOI":"10.1097\/MD.0000000000020810","article-title":"Genetically Confirmed Limb-Girdle Muscular Dystrophy Type 2B with DYSF Mutation Using Gene Panel Sequencing: A Case Report","volume":"99","author":"Lee","year":"2020","journal-title":"Medicine"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1532-429X-13-39","article-title":"Cardiovascular Magnetic Resonance of Cardiomyopathy in Limb Girdle Muscular Dystrophy 2B and 2I","volume":"13","author":"Rosales","year":"2011","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/cge.13544","article-title":"Autosomal Recessive Limb-Girdle and Miyoshi Muscular Dystrophies in the Netherlands: The Clinical and Molecular Spectrum of 244 Patients","volume":"96","author":"Frankhuizen","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.1212\/NXG.0000000000000036","article-title":"Genetic Profile for Suspected Dysferlinopathy Identified by Targeted Next-Generation Sequencing","volume":"1","author":"Izumi","year":"2015","journal-title":"Neurol. Genet."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.nmd.2006.09.006","article-title":"Dysferlin Expression in Monocytes: A Source of MRNA for Mutation Analysis","volume":"17","author":"Freixas","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"2287","DOI":"10.4103\/0366-6999.190671","article-title":"Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy","volume":"129","author":"Jin","year":"2016","journal-title":"Chin. Med. J. (Engl)."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1038\/jhg.2010.60","article-title":"Private Dysferlin Exon Skipping Mutation (c.5492G>A) with a Founder Effect Reveals Further Alternative Splicing Involving Exons 49-51","volume":"55","author":"Santos","year":"2010","journal-title":"J. Hum. Genet."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.nmd.2016.08.008","article-title":"Dysferlin Mutations and Mitochondrial Dysfunction","volume":"26","author":"Vincent","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"452","DOI":"10.5114\/fn.2014.47847","article-title":"Case Report of an Adolescent Girl with Limb-Girdle Muscular Dystrophy Type 2B\u2014The Usefulness of Muscle Protein Immunostaining in the Diagnosis of Dysferlinopathies","volume":"52","author":"Szymanska","year":"2014","journal-title":"Folia Neuropathol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/j.nmd.2006.06.010","article-title":"Muscle Protein Analysis in the Detection of Heterozygotes for Recessive Limb Girdle Muscular Dystrophy Type 2B and 2E","volume":"16","author":"Fanin","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/humu.9424","article-title":"Novel Sequence Variants in Dysferlin-Deficient Muscular Dystrophy Leading to mRNA Decay and Possible C2-Domain Misfolding","volume":"27","author":"Wenzel","year":"2006","journal-title":"Hum. Mutat."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/WNL.55.12.1931","article-title":"Identical Dysferlin Mutation in Limb-Girdle Muscular Dystrophy Type 2B and Distal Myopathy","volume":"55","author":"Illarioshkin","year":"2000","journal-title":"Neurology"},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1093\/hmg\/ddm002","article-title":"Two Endoplasmic Reticulum-Associated Degradation (ERAD) Systems for the Novel Variant of the Mutant Dysferlin: Ubiquitin\/Proteasome ERAD(I) and Autophagy\/Lysosome ERAD(II)","volume":"16","author":"Fujita","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"102403","DOI":"10.1016\/j.ceca.2021.102403","article-title":"AHNAK: The Quiet Giant in Calcium Homeostasis","volume":"96","author":"Sundararaj","year":"2021","journal-title":"Cell Calcium"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"e13173","DOI":"10.14814\/phy2.13173","article-title":"Hip Region Muscular Dystrophy and Emergence of Motor Deficits in Dysferlin-deficient Bla\/J Mice","volume":"5","author":"Nagy","year":"2017","journal-title":"Physiol. Rep."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1093\/hmg\/ddq065","article-title":"Efficient Recovery of Dysferlin Deficiency by Dual Adeno-Associated Vector-Mediated Gene Transfer","volume":"19","author":"Lostal","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1128\/iai.29.2.494-499.1980","article-title":"Genetic Control of Susceptibility to Cryptococcus Neoformans in Mice","volume":"29","author":"Rhodes","year":"1980","journal-title":"Infect. Immun."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1093\/hmg\/ddh212","article-title":"Disruption of Muscle Membrane and Phenotype Divergence in Two Novel Mouse Models of Dysferlin Deficiency","volume":"13","author":"Ho","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1002\/(SICI)1097-4598(199701)20:1<72::AID-MUS10>3.0.CO;2-3","article-title":"Spontaneous Myopathy in the SJL\/J Mouse: Pathology and Strength Loss","volume":"20","author":"Weller","year":"1997","journal-title":"Muscle Nerve"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/13770","article-title":"Dysferlin Deletion in SJL Mice (SJL-Dysf) Defines a Natural Model for Limb Girdle Muscular Dystrophy 2B","volume":"23","author":"Bittner","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.omtn.2018.08.013","article-title":"Exon Skipping in a Dysf-Missense Mutant Mouse Model","volume":"13","author":"Malcher","year":"2018","journal-title":"Mol. Ther.-Nucleic Acids"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1016\/j.nmd.2014.06.360","article-title":"Dysferlinopathy Caused by Protein Misfolding: The Novel Murine Animal Model Dysf-MMex38","volume":"24","author":"Heidt","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"ref_189","doi-asserted-by":"crossref","unstructured":"Ballouhey, O., Chapoton, M., Alary, B., Courrier, S., Da Silva, N., Krahn, M., L\u00e9vy, N., Weisleder, N., and Bartoli, M. (2023). A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy. Biomedicines, 11.","DOI":"10.3390\/biomedicines11051438"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.nurt.2008.08.003","article-title":"Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies","volume":"5","author":"Straub","year":"2008","journal-title":"Neurotherapeutics"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1002\/jcsm.12879","article-title":"Cholesterol Absorption Blocker Ezetimibe Prevents Muscle Wasting in Severe Dysferlin-Deficient and Mdx Mice","volume":"13","author":"White","year":"2022","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/S0889-857X(02)00031-5","article-title":"Clarifying the Boundaries between the Inflammatory and Dystrophic Myopathies: Insights from Molecular Diagnostics and Microarrays","volume":"28","author":"Hoffman","year":"2002","journal-title":"Rheum. Dis. Clin. N. Am."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-8-26","article-title":"Treatment of Dysferlinopathy with Deflazacort: A Double-Blind, Placebo-Controlled Clinical Trial","volume":"8","author":"Walter","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1097\/NEN.0b013e3181e0d01c","article-title":"Role of Thrombospondin 1 in Macrophage Inflammation in Dysferlin Myopathy","volume":"69","author":"Gallardo","year":"2010","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_195","doi-asserted-by":"crossref","unstructured":"Fern\u00e1ndez-Sim\u00f3n, E., Lleix\u00e0, C., Suarez-Calvet, X., Diaz-Manera, J., Illa, I., Gallardo, E., and de Luna, N. (2020). Proteasome Inhibitors Reduce Thrombospondin-1 Release in Human Dysferlin-Deficient Myotubes. BMC Musculoskelet. Disord., 21.","DOI":"10.1186\/s12891-020-03756-7"},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1038\/mt.2015.105","article-title":"Galectin-1 Protein Therapy Prevents Pathology and Improves Muscle Function in the Mdx Mouse Model of Duchenne Muscular Dystrophy","volume":"23","author":"Wuebbles","year":"2015","journal-title":"Mol. Ther."},{"key":"ref_197","doi-asserted-by":"crossref","unstructured":"Vallecillo-Z\u00faniga, M.L., Rathgeber, M.F., Poulson, P.D., Hayes, S., Luddington, J.S., Gill, H.N., Teynor, M., Kartchner, B.C., Valdoz, J., and Stowell, C. (2020). Treatment with Galectin-1 Improves Myogenic Potential and Membrane Repair in Dysferlin-Deficient Models. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0238441"},{"key":"ref_198","doi-asserted-by":"crossref","unstructured":"Cea, L.A., Fern\u00e1ndez, G., Arias-Bravo, G., Castillo-Ruiz, M., Escamilla, R., Bra\u00f1es, M.C., and S\u00e1ez, J.C. (2020). Blockade of Hemichannels Normalizes the Differentiation Fate of Myoblasts and Features of Skeletal Muscles from Dysferlin-Deficient Mice. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21176025"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/0891-5849(89)90066-X","article-title":"The Antioxidant Action of N-Acetylcysteine: Its Reaction with Hydrogen Peroxide, Hydroxyl Radical, Superoxide, and Hypochlorous Acid","volume":"6","author":"Aruoma","year":"1989","journal-title":"Free Radic. Biol. Med."},{"key":"ref_200","doi-asserted-by":"crossref","unstructured":"Garc\u00eda-Campos, P., B\u00e1ez-Matus, X., Jara-Guti\u00e9rrez, C., Paz-Araos, M., Astorga, C., Cea, L.A., Rodr\u00edguez, V., Bevilacqua, J.A., Caviedes, P., and C\u00e1rdenas, A.M. (2020). N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla\/J Mice. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21124293"},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"e13727","DOI":"10.14814\/phy2.13727","article-title":"Diltiazem Improves Contractile Properties of Skeletal Muscle in Dysferlin-Deficient BLAJ Mice, but Does Not Reduce Contraction-Induced Muscle Damage","volume":"6","author":"Begam","year":"2018","journal-title":"Physiol. Rep."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1093\/hmg\/ddy185","article-title":"A Promotive Effect for Halofuginone on Membrane Repair and Synaptotagmin-7 Levels in Muscle Cells of Dysferlin-Null Mice","volume":"27","author":"Dewulf","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"573","DOI":"10.3390\/molecules20010573","article-title":"Halofuginone\u2014The Multifaceted Molecule","volume":"20","author":"Pines","year":"2015","journal-title":"Molecules"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"27629","DOI":"10.1074\/jbc.M112.391722","article-title":"Modular Dispensability of Dysferlin C2 Domains Reveals Rational Design for Mini-Dysferlin Molecules","volume":"287","author":"Azakir","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"15009","DOI":"10.1038\/mtm.2015.9","article-title":"A Comparison of AAV Strategies Distinguishes Overlapping Vectors for Efficient Systemic Delivery of the 6.2 Kb Dysferlin Coding Sequence","volume":"2","author":"Pryadkina","year":"2015","journal-title":"Mol. Ther.-Methods Clin. Dev."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1089\/hum.2017.062","article-title":"Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy","volume":"29","author":"Potter","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.omtm.2017.10.005","article-title":"DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B","volume":"7","author":"Ma","year":"2017","journal-title":"Mol. Ther.-Methods Clin. Dev."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"e141295","DOI":"10.1172\/JCI141295","article-title":"Secreted Acid Sphingomyelinase as a Potential Gene Therapy for Limb Girdle Muscular Dystrophy 2B","volume":"132","author":"Bittel","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/s41573-020-0084-6","article-title":"Base Editing: Advances and Therapeutic Opportunities","volume":"19","author":"Porto","year":"2020","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_210","doi-asserted-by":"crossref","unstructured":"Godbout, K., and Tremblay, J.P. (2023). Prime Editing for Human Gene Therapy: Where Are We Now?. Cells, 12.","DOI":"10.3390\/cells12040536"},{"key":"ref_211","doi-asserted-by":"crossref","unstructured":"Anwar, S., Mir, F., and Yokota, T. (2023). Enhancing the Effectiveness of Oligonucleotide Therapeutics Using Cell-Penetrating Peptide Conjugation, Chemical Modification, and Carrier-Based Delivery Strategies. Pharmaceutics, 15.","DOI":"10.3390\/pharmaceutics15041130"},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1261\/rna.653607","article-title":"Antisense-Mediated Exon Skipping: A Versatile Tool with Therapeutic and Research Applications","volume":"13","year":"2007","journal-title":"RNA"},{"key":"ref_213","doi-asserted-by":"crossref","unstructured":"Wilton-Clark, H., and Yokota, T. (2023). Recent Trends in Antisense Therapies for Duchenne Muscular Dystrophy. Pharmaceutics, 15.","DOI":"10.20944\/preprints202301.0139.v1"},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/ejhg.2010.4","article-title":"Therapeutic Exon Skipping for Dysferlinopathies?","volume":"18","author":"Singh","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_215","doi-asserted-by":"crossref","unstructured":"Anwar, S., He, M., Lim, K.R.Q., Maruyama, R., and Yokota, T. (2021). A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis. J. Pers. Med., 11.","DOI":"10.3390\/jpm11010046"},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1358\/dot.2020.56.8.3159186","article-title":"Golodirsen for Duchenne Muscular Dystrophy","volume":"56","author":"Anwar","year":"2020","journal-title":"Drugs Today"},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"533","DOI":"10.2147\/DDDT.S97635","article-title":"Eteplirsen in the Treatment of Duchenne Muscular Dystrophy","volume":"11","author":"Lim","year":"2017","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1007\/s40265-020-01339-3","article-title":"Viltolarsen: First Approval","volume":"80","author":"Dhillon","year":"2020","journal-title":"Drugs"},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1358\/dot.2021.57.12.3352740","article-title":"Casimersen for Duchenne Muscular Dystrophy","volume":"57","author":"Yokota","year":"2021","journal-title":"Drugs Today"},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"281","DOI":"10.3233\/JND-150109","article-title":"Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients\u2019 Cells","volume":"2","author":"Blouin","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.omtn.2018.10.004","article-title":"Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy","volume":"13","author":"Lee","year":"2018","journal-title":"Mol. Ther.-Nucleic Acids"},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"2360","DOI":"10.1016\/j.ymthe.2017.06.025","article-title":"Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B","volume":"25","author":"Gushchina","year":"2017","journal-title":"Mol. Ther."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/sctm.18-0280","article-title":"Phenotypic Drug Screening for Dysferlinopathy Using Patient-Derived Induced Pluripotent Stem Cells","volume":"8","author":"Kokubu","year":"2019","journal-title":"Stem Cells Transl. Med."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S0960-8966(01)00254-1","article-title":"Dysferlin Expression after Normal Myoblast Transplantation in SCID and in SJL Mice","volume":"12","author":"Roy","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/acn3.172","article-title":"AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models","volume":"2","author":"Sondergaard","year":"2015","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"e277","DOI":"10.1038\/mtna.2015.52","article-title":"Full-Length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-Deficient Muscle","volume":"5","author":"Escobar","year":"2016","journal-title":"Mol. Ther.-Nucleic Acids"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"e13322","DOI":"10.1111\/acel.13322","article-title":"The Ketogenic Diet Preserves Skeletal Muscle with Aging in Mice","volume":"20","author":"Wallace","year":"2021","journal-title":"Aging Cell"},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1016\/j.ymthe.2020.02.006","article-title":"AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy","volume":"28","author":"Ono","year":"2020","journal-title":"Mol. Ther."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"10344","DOI":"10.1074\/jbc.M111.329078","article-title":"Proteasomal Inhibition Restores Biological Function of Mis-Sense Mutated Dysferlin in Patient-Derived Muscle Cells","volume":"287","author":"Azakir","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"250ra112","DOI":"10.1126\/scitranslmed.3009612","article-title":"Proteasome Inhibitors Increase Missense Mutated Dysferlin in Patients with Muscular Dystrophy","volume":"6","author":"Azakir","year":"2014","journal-title":"Sci. Transl. Med."},{"key":"ref_231","doi-asserted-by":"crossref","unstructured":"Grose, W.E., Clark, K.R., Griffin, D., Malik, V., Shontz, K.M., Montgomery, C.L., Lewis, S., Brown, R.H., Janssen, P.M.L., and Mendell, J.R. (2012). Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency Following AAV5 Gene Transfer. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0039233"}],"container-title":["Biomolecules"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2218-273X\/14\/3\/256\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:02:25Z","timestamp":1760104945000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2218-273X\/14\/3\/256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,21]]},"references-count":231,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["biom14030256"],"URL":"https:\/\/doi.org\/10.3390\/biom14030256","relation":{},"ISSN":["2218-273X"],"issn-type":[{"value":"2218-273X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,21]]}}}